Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation | Orphanet Journal of Rare Diseases | Full Text

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation | Orphanet Journal of Rare Diseases | Full Text



Orphanet Journal of Rare Diseases

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

• Sonia Emperador†,
• Ester López-Gallardo†,
• Carmen Hernández-Ainsa,
• Mouna Habbane,
• Julio Montoya,
• M. Pilar Bayona-BafaluyEmail author and
• Eduardo Ruiz-PesiniEmail authorView ORCID ID profile

†Contributed equally

Orphanet Journal of Rare Diseases201914:150

https://doi.org/10.1186/s13023-019-1128-z

©  The Author(s). 2019

• Received: 15 January 2019
• Accepted: 11 June 2019
• Published: 21 June 2019

Abstract

Background

The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences suggest two therapeutic approaches: the reduction of the mutation load in heteroplasmic patients or the elevation of mitochondrial DNA amount in homoplasmic patients.

Results

Here we show that ketogenic treatment, in cybrid cell lines, reduces the percentage of the m.13094 T > C heteroplasmic mutation and also increases the mitochondrial DNA levels of the m.11778G > A mitochondrial genotype.

Conclusions

These results suggest that ketogenic diet could be a therapeutic strategy for Leber hereditary optic neuropathy.

Keywords

• Mitochondrial DNA
• Leber hereditary optic neuropathy
• Ketogenic diet